“When an infant or child shows signs of a disorder of the brain, spinal cord, nerves or muscles, a pediatrician or pediatric neurologist in the community usually would like to refer them to a specialty clinic at a large treatment and research center, but many of these disorders have overlapping symptoms, making it difficult to know which clinic is most appropriate. Our clinic removes this burden because research and treatment experts from several disciplines evaluate each child’s case to develop testing and follow-up strategies. As we reach a diagnosis, the appropriate expert takes the lead, coordinating ongoing care with the referring physician,” said Baloh, director of Neuromuscular Medicine in the Department of Neurology.

Pierson said the clinic is designed to efficiently help parents coping with unexpected and often heartbreaking situations.

“Parents often are desperate for answers and don’t know where to start. As a group, we look at each patient’s case and say, ‘This is what we think is going on, these are the types of physicians you need, and this is the testing that will begin to bring it all together,’” said Pierson, who trained as a pediatric neurologist with the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke at the National Institutes of Health.

He gained further expertise with rare neurogenetic disorders while working with the NIH Undiagnosed Diseases Program, where he employed new methods of genetic analysis and was involved in diagnosing some neurogenetic disorders in which fewer than 10 patients exist worldwide. In one recently published case study, he and colleagues identified a rare neurodegenerative disorder, GM1 gangliosidosis, that had baffled doctors for more than a decade and even had been excluded from consideration.

The clinic's team also includes Sulagna Saitta, MD, PhD, a medical geneticist and expert in metabolic disorders; Y. Jane Tavyev, MD, a neurodevelopmental neurologist and specialist in behavioral issues stemming from neurogenetic disorders; and Tara Funari, a certified genetic counselor.

They provide specialized testing and care for a wide range of disorders, including:

Leukodystrophies – rare, usually inherited diseases that damage nerve cells in the brain. Symptoms, which may include visual, speech, movement, hearing, and mental or physical abnormalities, usually begin in infancy or childhood.

Ataxias – disorders of balance that cause abnormal movements of the arms, legs or eyes. Ataxias can be caused by many diseases or developmental problems of the cerebellum, a part of the brain that controls movement, stability, balance and gait. Some forms are inherited.

Motor neuron disease – genetic disorders, such as spinal muscular atrophy, that attack motor neurons in the spinal cord. This damage weakens muscles and may affect a children’s ability to crawl, walk, turn their head, breathe or swallow.

Peripheral neuropathies – disorders of nerves outside of the brain and spinal cord, such as Charcot-Marie-Tooth disease, that can affect muscle control and sensory perceptions.

Muscular dystrophies – inherited disorders that cause progressive muscle loss and weakness. Some muscular dystrophies are present at birth or appear in childhood.

Providing an accurate diagnosis is the first and key step, Pierson and Baloh said. Children with some disorders will see a normal life span; others, much shorter. Some will have significant impairment; others, less. In some cases, genetic testing can identify a disorder, such as Pompe disease, that can be fatal but also is treatable if recognized early. Diagnosis is crucial to help parents grasp their child’s needs and future.

Parents sometimes wonder why testing matters, especially if their child is diagnosed with a disease for which no treatment or cure now exists.

“We believe experimental treatments for some disorders will enter clinical trials in the not-too-distant future and accurately diagnosed patients may be able to participate in these. Testing also opens the possibility of genetic counseling so families understand risks if they choose to have more children or the chances that an existing child might be affected,” said Baloh, whose research team recently was awarded a $3 million grant from the California Institute for Regenerative Medicine to study Charcot-Marie-Tooth disease, the most common inherited neurological disorder. His group also recently identified new genetic causes of both spinal muscular atrophy and limb girdle muscular dystrophy, two degenerative disorders that typically afflict young children.

Pierson has co-written numerous journal articles documenting uncommon neurogenetic diseases – including a disorder previously unidentified – using state-of-the-art testing methods to screen a large number of genes to identify candidate mutations.

Physicians or parents may find out more about the Pediatric Neurogenetics and Neuromuscular Clinic by calling 310-248-8960.